Linked Data
dbSNP Id:
rs1778703838
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.149287755_149287756del , CM000668.2:g.149287755_149287756del | GRCh38 |
| NC_000006.11:g.149608891_149608892del , CM000668.1:g.149608891_149608892del | GRCh37 |
| NC_000006.10:g.149650584_149650585del | NCBI36 |
| NG_021386.2:g.74832_74833del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000606202.1:c.-121+68979_-121+68980del | ENSP00000476139.1:n.-121+68979_-121+68980del | |
| NM_001292035.2:c.6+68979_6+68980del | NP_001278964.1:n.6+68979_6+68980del | |
| NM_001292035.3:c.6+68979_6+68980del | NP_001278964.1:n.6+68979_6+68980del |